V67D (p.Val67Asp) variant of BLM (RecQ-like DNA helicase BLM)
V67D (p.Val67Asp) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
V67D (p.Val67Asp) variant details
- p.Val67Asp
- rs1555418261
- ClinGen CA393839701
- ClinVar RCV000564482
- Ensembl rs1555418261
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.16
- MetaLR 0.16
- MetaSVM -0.89
- PolyPhen-2 0.43
- SIFT 0.00
- MutPred 0.22
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)